| Primary Identifier | MGI:1306796 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 11783 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cysteine-type endopeptidase activator activity involved in apoptotic process and identical protein binding activity. Involved in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress. Acts upstream of or within several processes, including nervous system development; positive regulation of cysteine-type endopeptidase activity; and regulation of apoptotic DNA fragmentation. Located in cytosol and nucleus. Is expressed in several structures, including inner cell mass; inner ear; limb interdigital region; liver; and vibrissa. Used to study Noonan syndrome. Orthologous to human APAF1 (apoptotic peptidase activating factor 1). PHENOTYPE: Homozygotes for targeted null mutations have defects in apoptosis resulting in brain overgrowth, craniofacial defects, interdigit webbing and altered lens and retina. Most mutants die by embryonic day 16.5 or perinatally, and male survivors are sterile. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
